|OBO ID: DOID:0080308|
|Term Name:||myofibrillar myopathy 8||Search Ontology:|
|Definition:||A myofibrillar myopathy that is characterized by childhood onset of slowly progressive proximal muscle weakness and atrophy resulting in increased falls, gait problems, and difficulty running or climbing stairs, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PYROXD1 gene on chromosome 12p12. (2)|
|Ontology:||Human Disease (DOID:0080308)|
|is a type of:||
OTHER myofibrillar myopathy 8 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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